Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

R. Žordania · SciRah

Researcher profile · Semantic Scholar

R. Žordania

Share profile

R. Žordania — researcher profile on SciRah

h-index: 17
Works: 35
Citations: 864

Most-cited papers

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
Kristien P. Hoornaert, I. Vereecke, C. Dewinter, T. Rosenberg +49 more
2010European Journal of Human Genetics145 citations Open access
Semantic Scholar
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
S. Wortmann, S. Ziętkiewicz, M. Kousi, R. Szklarczyk +31 more
2015American Journal of Human Genetics124 citations Open access
Semantic Scholar
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Katrin Õunap, O. Uibo, R. Žordania, L. Kiho +3 more
2004American Journal of Medical Genetics. Part A74 citations
Semantic Scholar
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability
V. Pravata, M. Gundogdu, S. G. Bartual, A. Ferenbach +6 more
2019FEBS Letters52 citations Open access
Semantic Scholar
The neonatal phenotype of Prader–Willi syndrome
E. Õiglane-Shlik, R. Žordania, H. Varendi, A. Antson +5 more
2006American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
Maria Yakoreva, T. Kahre, R. Žordania, K. Reinson +10 more
2019European Journal of Human Genetics35 citations Open access
Semantic Scholar
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
K. Joost, R. Rodenburg, A. Piirsoo, B. van den Heuvel +2 more
2010Pediatric Neurology33 citations
Semantic Scholar
Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented
E. Õiglane-Shlik, T. Talvik, R. Žordania, H. Põder +7 more
2006American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Neonatal screening for congenital hypothyroidism in Estonia
R.‐H. Mikelsaar, R. Žordania, Mart Viikmaa, G. Kudrjavtseva
1998Journal of Medical Screening32 citations Open access
Semantic Scholar
Natural history of KBG syndrome in a large European cohort
L. Loberti, L. Bruno, Stefania Granata, Gabriella Doddato +55 more
2022Human Molecular Genetics30 citations Open access
Semantic Scholar
Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.
K. Krabbi, M. Uudelepp, K. Joost, R. Žordania +1 more
2011Molecular Genetics and Metabolism27 citations
Semantic Scholar
The Live-Birth Prevalence of Mucopolysaccharidoses in Estonia
K. Krabbi, K. Joost, R. Žordania, I. Talvik +4 more
2012Genetic Testing and Molecular Biomarkers23 citations Open access
Semantic Scholar
Three Families with Mild PMM2-CDG and Normal Cognitive Development
M. Vals, E. Morava, Kai Teeäär, R. Žordania +3 more
2017American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
R. Teek, Katrin Kruustük, R. Žordania, K. Joost +6 more
2010International Journal of Pediatric Otorhinolaryngology22 citations
Semantic Scholar
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature
I. Kalev, Mu-Ru Kai, R. Teek, R. Žordania +3 more
2010European Journal of Pediatrics19 citations
Semantic Scholar
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
K. Joost, K. Õunap, R. Žordania, M. Uudelepp +5 more
2012JIMD Reports18 citations Open access
Semantic Scholar
Descriptive epidemiology of Down's syndrome in Estonia.
T. Reimand, K. Õunap, R. Žordania, Tiiu Ilus +3 more
2006Paediatric and Perinatal Epidemiology17 citations
Semantic Scholar
Girl with partial Turner syndrome and absence epilepsy.
H. Puusepp, R. Žordania, M. Paál, O. Bartsch +1 more
2008Pediatric Neurology14 citations
Semantic Scholar
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
S. Sarv, T. Kahre, Eve Vaidla, S. Pajusalu +9 more
2021Frontiers in Genetics13 citations Open access
Semantic Scholar
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.
R. Teek, K. Kruustük, R. Žordania, K. Joost +7 more
2013Advances in Medical Sciences13 citations
Semantic Scholar
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
R. Teek, E. Oitmaa, Katrin Kruustük, R. Žordania +7 more
2009International Journal of Pediatric Otorhinolaryngology12 citations
Semantic Scholar
An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
K. Õunap, S. Pajusalu, O. Žilina, T. Reimand +1 more
2016Clinical Case Reports11 citations Open access
Semantic Scholar
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants
Alessandra Rossi, Susan X N Lin, N. Absalom, Sebastian Ortiz-De la Rosa +53 more
2025Neurology10 citations Open access
Semantic Scholar
Prenatal Diagnosis of 17p13.1p13.3 Duplication
K. Kiiski, T. Roovere, R. Žordania, H. von Koskull +1 more
2012Case Reports in Medicine10 citations Open access
Semantic Scholar
Parents’ Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia
T. Reimand, O. Uibo, R. Žordania, Veronika Palmiste +2 more
2004Public Health Genomics9 citations
Semantic Scholar
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
K. Joost, R. Rodenburg, A. Piirsoo, L. P. van den Heuvel +6 more
2012Molecular Syndromology8 citations Open access
Semantic Scholar
Serum lipid and apolipoprotein profiles in newborns and six‐year‐old children: The Tallinn Young Family Study
E. Kurvinen, K. Aasvee, R. Žordania, M. Jauhiainen +1 more
2005Scandinavian Journal of Clinical and Laboratory Investigation8 citations
Semantic Scholar
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
Kristien P. Hoornaert, I. Vereecke, C. Dewinter, T. Rosenberg +49 more
2010European Journal of Human Genetics4 citations Open access
Semantic Scholar
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency
Kairit Joost, Pille Tammur, Rita Teek, Olga Žilina +6 more
2011Molecular Syndromology3 citations Open access
Semantic Scholar
Exploring the hereditary genetic mutational landscape of breast and ovarian cancer in Estonia
M. Tooming, K. Toome, K. Rekker, L. Roht +20 more
2026Scientific Reports1 citations Open access
Semantic Scholar
Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia
M. Tooming, K. Rekker, K. Toome, L. Roht +19 more
2026Frontiers in Genetics0 citations Open access
Semantic Scholar
Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).
E. R. Tars-Hurt, M. Lintrop, R. Žordania, L. Mauring +3 more
2026European Journal of Medical Genetics0 citations Open access
Semantic Scholar
University of Dundee A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability Pravata,
V. Pravata, M. Gundogdu, S. G. Bartual, A. Ferenbach +7 more
20190 citations
Semantic Scholar
Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect
S. Wortmann, S. Ziętkiewicz, M. Kousi, R. Szklarczyk +37 more
20140 citations
Semantic Scholar
Contents Vol. 1, 2010
S. Berland, K. Alme, A. Brendehaug, G. Houge +65 more
2011Molecular Syndromology0 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

K. Õunap×23
Invite
K. Õunap — researcher profile on SciRah
S. Pajusalu×8
Invite
S. Pajusalu — researcher profile on SciRah
T. Kahre×8
Invite
T. Kahre — researcher profile on SciRah
T. Reimand×8
Invite
T. Reimand — researcher profile on SciRah

×7

Invite

K. Joost — researcher profile on SciRah

Invite

R. Teek — researcher profile on SciRah

E. Õiglane-Shlik×5

Invite

E. Õiglane-Shlik — researcher profile on SciRah

Invite

I. Talvik — researcher profile on SciRah

R. Rodenburg×4

Invite

R. Rodenburg — researcher profile on SciRah

Invite

T. Talvik — researcher profile on SciRah

Ü. Murumets×4

Invite

Ü. Murumets — researcher profile on SciRah

N. Tõnisson×4

Invite

N. Tõnisson — researcher profile on SciRah